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Article

Preferential transmission of the MTHFR 677 T allele to infants with Down syndrome: implications for a survival advantage.

American journal of medical genetics - 15 Nov 2002

Hobbs Charlotte A, Cleves Mario A, Lauer Ronald M, Burns Trudy L, James S Jill

Abstract excerpt

We have examined the transmission frequencies of the methylenetetrahydrofolate reductase (MTHFR) 677 T and C alleles from heterozygous parents to children with Down syndrome (trisomy 21) in 202 Caucasian families. Our results indicated that the MTHFR 677T allele was transmitted to children with Down syndrome at a significantly higher rate than would be expected based on Mendelian inheritance patterns, and the C...

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Source

Identifiers

PMID: 12400059
DOI: 10.1002/ajmg.10704

Genes

MTHFR

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Preferential transmission of the MTHFR 677 T allele to infants with Down syndrome: implications for a survival advantage.PMID 12400059Read ↗

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